Canonical Allele Identifier: CA624725164

Gene: GUCY2D

Linked Data

• dbSNP Id: rs1491397945
• gnomAD v2: 17-7915297-CTA-C
• gnomAD v3: 17-8011979-CTA-C
• gnomAD v4: 17-8011979-CTA-C
• MyVariant Identifiers: chr17:g.7915298_7915299del (hg19) ; chr17:g.8011980_8011981del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8011981_8011982del , CM000679.2:g.8011981_8011982del	GRCh38
NC_000017.10:g.7915299_7915300del , CM000679.1:g.7915299_7915300del	GRCh37
NC_000017.9:g.7856024_7856025del	NCBI36
NG_009092.1:g.14312_14313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1750-163_1750-162del MANE Select	ENSP00000254854.4:n.1750-163_1750-162del
ENST00000254854.4:c.1750-163_1750-162del	ENSP00000254854.4:n.1750-163_1750-162del
NM_000180.3:c.1750-163_1750-162del	NP_000171.1:n.1750-163_1750-162del
XM_011523816.1:c.1750-163_1750-162del	XP_011522118.1:n.1750-163_1750-162del
NM_000180.4:c.1750-163_1750-162del MANE Select	NP_000171.1:n.1750-163_1750-162del